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LAMB2 Gene

protein-coding   GIFtS: 68
GCID: GC03M049163

Laminin, Beta 2 (Laminin S)


(Previous symbol: LAMS)
  See LAMB2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Laminin, Beta 2 (Laminin S)1 2     Laminin-11 Subunit Beta3
LAMS1 2 3 5     Laminin-14 Subunit Beta3
Laminin S1 2     Laminin-15 Subunit Beta3
Laminin B1s Chain2 3     Laminin-3 Subunit Beta3
S-LAM Beta2 3     Laminin-4 Subunit Beta3
S-Laminin Subunit Beta2 3     Laminin-7 Subunit Beta3
NPHS52 5     Laminin-9 Subunit Beta3
Laminin Subunit Beta-22     

External Ids:    HGNC: 64871   Entrez Gene: 39132   Ensembl: ENSG000001720377   OMIM: 1503255   UniProtKB: P552683   

Export aliases for LAMB2 gene to outside databases

Previous GC identifers: GC03P046915 GC03P048475 GC03M049012 GC03M049117 GC03M049133


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LAMB2 Gene:
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement
membranes. They have been implicated in a wide variety of biological processes including cell adhesion,
differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical
chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure
consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each
laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been
described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin
isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1
heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely
unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably
reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain
contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However,
unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of
muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which
the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of
neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus
5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of
this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced
form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known.
(provided by RefSeq, Aug 2011)

GeneCards Summary for LAMB2 Gene:
LAMB2 (laminin, beta 2 (laminin S)) is a protein-coding gene. Diseases associated with LAMB2 include pierson syndrome, and nephrotic syndrome, type 5, with or without ocular abnormalities. GO annotations related to this gene include integrin binding and structural molecule activity. An important paralog of this gene is LAMC1.

UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268
Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration
and organization of cells into tissues during embryonic development by interacting with other extracellular
matrix components

Gene Wiki entry for LAMB2 (Laminin, beta 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LAMB2 gene promoter:
         E2F-4   E2F-3a   E2F-1   FOXF2   E2F   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLAMB2 promoter sequence
   Search Chromatin IP Primers for LAMB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LAMB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.3-p21.2

LAMB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMB2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M049163:  view genomic region     (about GC identifiers)

Start:
49,158,547 bp from pter      End:
49,170,599 bp from pter
Size:
12,053 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268 (See protein sequence)
Recommended Name: Laminin subunit beta-2 precursor  
Size: 1798 amino acids; 195981 Da
Subunit: Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma),
which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short
arms with globules at each end. Beta-2 is a subunit of laminin-3 (laminin-121 or S-laminin), laminin-4
(laminin-221 or S-merosin), laminin-7 (laminin-321 or KS-laminin), laminin-9 (laminin-421), laminin-11
(laminin-521), laminin-14 (laminin-423) and laminin-15 (laminin-523)
Secondary accessions: Q16321

Explore the universe of human proteins at neXtProt for LAMB2: NX_P55268

Explore proteomics data for LAMB2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn248, Asn368, Asn1085, Asn1249, Asn1308, Asn1348, Asn1499
  • Modification sites at PhosphoSitePlus

  • See LAMB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002283.3  
    ENSEMBL proteins: 
     ENSP00000388325   ENSP00000307156   ENSP00000444751  
    Reactome Protein details: P55268

    LAMB2 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for LAMB2 

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    EMD Millipore Mono- and Polyclonal Antibodies for the study of LAMB2
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    Search eBioscience for ELISAs for LAMB2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    LAM: Laminins

    4 InterPro protein domains:
     IPR013015 Laminin_IV
     IPR008211 Laminin_N
     IPR013032 EGF-like_CS
     IPR002049 EGF_laminin

    Graphical View of Domain Structure for InterPro Entry P55268

    ProtoNet protein and cluster: P55268

    1 Blocks protein domain: IPB002049 Laminin-type EGF-like domain

    UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268
    Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil
    structure
    Domain: Domains VI and IV are globular
    Similarity: Contains 13 laminin EGF-like domains
    Similarity: Contains 1 laminin IV type B domain
    Similarity: Contains 1 laminin N-terminal domain


    Find genes that share domains with LAMB2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LAMB2_HUMAN, P55268
    Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration
    and organization of cells into tissues during embryonic development by interacting with other extracellular
    matrix components

         Genatlas biochemistry entry for LAMB2:
    laminin,beta 2 polypeptide,component of basement membrane of skeletal muscle neuromuscular junction,kidney
    glomerulus,nerve fascicle perineurium,vascular smooth muscle,paralog to LAMB1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding IEA--
    GO:0005198structural molecule activity NAS7698745
    GO:0005515protein binding ----
         
    Find genes that share ontologies with LAMB2           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lamb2):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  immune system 
     mortality/aging  nervous system  renal/urinary system  vision/eye 

    Find genes that share phenotypes with LAMB2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Lamb2tm1Jrs for LAMB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMB2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LAMB2

    miRNA
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    miRTarBase miRNAs that target LAMB2:
    hsa-mir-196b-5p (MIRT042683), hsa-mir-484 (MIRT042388)

    Block miRNA regulation of human, mouse, rat LAMB2 using miScript Target Protectors
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LAMB2_HUMAN, P55268: Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is
    concentrated in the synaptic cleft of the neuromuscular junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    lysosome1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005604basement membrane IDA10964500
    GO:0005605basal lamina TAS7698745
    GO:0005608laminin-3 complex IPI10964500
    GO:0031012colocalizes with extracellular matrix ISS--

    Find genes that share ontologies with LAMB2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LAMB2 About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    2Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    5Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.35
    Laminin interactions0.35


    Find genes that share SuperPaths with LAMB2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for LAMB2 (see all 14)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    CDK5 Pathway
    Transendothelial Migration of Leukocytes

    3 BioSystems Pathways for LAMB2
        Focal Adhesion
    Alpha6-Beta4 Integrin Signaling Pathway
    Inflammatory Response Pathway

    3 Reactome Pathways for LAMB2
        ECM proteoglycans
    Laminin interactions
    Non-integrin membrane-ECM interactions


    Selected Kegg Pathways  (Kegg details for LAMB2) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Toxoplasmosis
    Amoebiasis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LAMB2
    Interactions:

        Search GeneGlobe Interaction Network for LAMB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LAMB2 (P552682, 3 ENSP000003071564) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF512BQ96KM62, 3MINT-60825 I2D: score=2 
    PLEKHA5Q9HAU03, ENSP000002992754I2D: score=3 STRING: ENSP00000299275
    LAMA1P253913, ENSP000003743094I2D: score=1 STRING: ENSP00000374309
    LAMA3Q167873, ENSP000003245324I2D: score=1 STRING: ENSP00000324532
    LAMA4Q163633, ENSP000002305384I2D: score=1 STRING: ENSP00000230538
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000904cell morphogenesis involved in differentiation ----
    GO:0007155cell adhesion IEA--
    GO:0007411axon guidance IEA--
    GO:0007528neuromuscular junction development IEA--
    GO:0007601visual perception IEA--

    Find genes that share ontologies with LAMB2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LAMB2

    4 Novoseek inferred chemical compound relationships for LAMB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tripeptide 54.4 4 8568518 (1), 1683902 (1), 7875382 (1)
    acetylcholine 27.1 2 7595635 (1), 11425875 (1)
    heparin 8.62 5 8568518 (1), 9294861 (1)
    calcium 0 4 8568518 (1)



    Find genes that share compounds with LAMB2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LAMB2 gene: 
    NM_002292.3  

    Unigene Cluster for LAMB2:

    Laminin, beta 2 (laminin S)
    Hs.439726  [show with all ESTs]
    Unigene Representative Sequence: NM_002292
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000467506 ENST00000418109(uc003cwe.3 uc003cwf.1) ENST00000484713
    ENST00000305544 ENST00000498377 ENST00000469665 ENST00000477225 ENST00000480640
    ENST00000538659 ENST00000542580 ENST00000462930 ENST00000464891 ENST00000483057
    ENST00000486298 ENST00000477701 ENST00000493571 ENST00000488638 ENST00000483321

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      QuantiFast Probe-based Assays in human, mouse, rat LAMB2

    Additional mRNA sequence: 

    AK094050.1 S77512.1 X72760.1 

    19 DOTS entries:

    DT.448403  DT.100825203  DT.97787761  DT.85104167  DT.100031014  DT.97821860  DT.100825205  DT.91876035 
    DT.95229765  DT.95232335  DT.97767595  DT.120921792  DT.95332409  DT.97792696  DT.120921772  DT.85104169 
    DT.91787263  DT.95087319  DT.91777805 

    Selected AceView cDNA sequences (see all 443):

    BQ063188 BM726068 BQ920278 BQ029937 BM995663 BM473201 CN481457 BQ678038 
    BQ881066 BQ939467 BM820591 CA417706 CA390631 BM836250 CD172516 BU157581 
    BE695052 BF873643 BG926643 BX106076 BE702901 N80961 CA390148 BI771096 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LAMB2 (see all 21)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                        -                                                                                                   
    SP5:                                                        -                                                                                                   

    ExUns: 35 ^ 36 ^ 37a · 37b · 37c ^ 38 ^ 39 ^ 40a · 40b · 40c ^ 41
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for LAMB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    LAMB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGCCTATG
    LAMB2 Expression
    About this image


    LAMB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Inner Enamel Epithelial Cells Dental Enamel
     
     Epithelial Cells
             Inner Enamel Epithelial Cells Dental Enamel
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Uterus (Reproductive System)
    LAMB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LAMB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.439726
        Custom PCR Arrays for LAMB2
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    OriGene qSTAR qPCR primer pairs in human, mouse for LAMB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LAMB2
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    QuantiFast Probe-based Assays in human, mouse, rat LAMB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for LAMB2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lamb21 , 5 laminin, beta 21, 5 85.88(n)1
    88.47(a)1
      9 (59.40 cM)5
    167791  NM_008483.31  NP_032509.21 
     1084798625 
    chicken
    (Gallus gallus)
    Aves LAMB21 laminin, beta 2 (laminin S) 66.55(n)
    62.96(a)
      373980  NM_204166.1  NP_989497.1 
    lizard
    (Anolis carolinensis)
    Reptilia LAMB26
    laminin, beta 2 (laminin S)
    59(a)
    1 ↔ 1
    2(188389807-188463718)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lamb21 laminin, beta 2 (laminin S) 62.41(n)
    60.78(a)
      100485566  XM_002933055.2  XP_002933101.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lamb21 laminin, beta 2 (laminin S) 62.38(n)
    60.26(a)
      337767  NM_001243045.1  NP_001229974.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LanB11 , 3 embryonic morphogenesis3
    LanB11
    39(a)3
    49.36(n)1
    42.56(a)1
      340681  NM_164773.21  NP_723319.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lam-11 , 3 laminin3
    lam-11
    38(a)3
    47.04(n)1
    41.46(a)1
      IV(5173526-5183412)3
    1772921  NM_068333.31  NP_500734.31 


    ENSEMBL Gene Tree for LAMB2 (if available)
    TreeFam Gene Tree for LAMB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for LAMB2 gene
    LAMC12  LAMA52  LAMC22  LAMA12  LAMC32  LAMA42  LAMA32  LAMA22  
    USH2A2  LAMB42  LAMB12  
    6 SIMAP similar genes for LAMB2 using alignment to 2 protein entries:     LAMB2_HUMAN (see all proteins):
    LAMB1    LAMB3    unknown    LAMB4    LAMA3    NTN4

    Find genes that share paralogs with LAMB2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for LAMB2 (see all 525)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0319734
    Pierson syndrome (PIERSS)4--see VAR_0319732 L F mis40--------
    VAR_0319704
    Pierson syndrome (PIERSS)4--see VAR_0319702 C R mis40--------
    VAR_0319694
    Pierson syndrome (PIERSS)4--see VAR_0319692 R W mis40--------
    VAR_0664924
    Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5)4--see VAR_0664922 H R mis40--------
    VAR_0319724
    Pierson syndrome (PIERSS)4--see VAR_0319722 N K mis40--------
    VAR_0319684
    Pierson syndrome (PIERSS)4--see VAR_0319682 R Q mis40--------
    rs2676072071,2
    Cpathogenic149092956(-) TTCAAA/CAGCAA 2 K N mis10--------
    rs1455626551,2
    C--49090649(+) TCTAGA/CTAAGG 1 -- ds50010--------
    rs1126155321,2
    C--49090854(+) CACAGA/C/TGGGGG 2 -- ut311CSA 1
    rs2008386851,2
    C,F--49090977(+) GCAGGT/GGTTGT 2 /T /P mis11Minor allele frequency- G:0.02EU 823

    HapMap Linkage Disequilibrium report for LAMB2 (49158547 - 49170599 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for LAMB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834686CNV Loss17160897
    nsv876764CNV Loss21882294
    nsv876765CNV Loss21882294

    Human Gene Mutation Database (HGMD): LAMB2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LAMB2
    DNA2.0 Custom Variant and Variant Library Synthesis for LAMB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 150325   
    OMIM disorders: 614199  609049  
    UniProtKB/Swiss-Prot: LAMB2_HUMAN, P55268
  • Pierson syndrome (PIERSS) [MIM:609049]: Characterized by nephrotic syndrome with neonatal onset, diffuse
    mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs
    within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may
    display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic
    syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5) [MIM:614199]: A form of nephrotic
    syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as
    hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal
    segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited
    steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of
    progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and
    strabismus. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for LAMB2:    
    About MalaCards
    pierson syndrome    nephrotic syndrome, type 5, with or without ocular abnormalities    endplate acetylcholinesterase deficiency    diffuse mesangial sclerosis
    nephrosis    nephrotic syndrome    walker-warburg syndrome    brain disease

    3 diseases from the University of Copenhagen DISEASES database for LAMB2:
    Epidermolysis bullosa     Myopathy     Neuropathy

    Find genes that share disorders with LAMB2           About GenesLikeMe

    6 Novoseek inferred disease relationships for LAMB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    walker-warburg syndrome 74.7 3 7501167 (2), 9327401 (1)
    nephrosis 49.8 2 16912710 (1), 7670489 (1)
    muscular dystrophies 48.3 2 9327401 (2)
    nephrotic syndrome 33.2 5 16912710 (2), 16898484 (2), 7670489 (1)
    metastasis 0 1 9687985 (1)
    tumors 0 1 8036181 (1)

    Genetic Association Database (GAD): LAMB2
    Human Genome Epidemiology (HuGE) Navigator: LAMB2 (11 documents)

    Export disorders for LAMB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LAMB2 gene, integrated from 10 sources (see all 110):
    (articles sorted by number of sources associating them with LAMB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. (PubMed id 16912710)1, 2, 9 Hasselbacher K.... Hildebrandt F. (Kidney Int. 2006)
    2. The human laminin beta 2 chain (S-laminin): structure, expression in fetal tissues and chromosomal assignment of the LAMB2 gene. (PubMed id 7795887)1, 2, 9 Iivanainen A.... Tryggvason K. (Matrix Biol. 1995)
    3. Human beta 2 chain of laminin (formerly S chain): cDNA cloning, chromosomal localization, and expression in carcinomas. (PubMed id 7698745)1, 2, 9 Wewer U.M.... Albrechtsen R. (Genomics 1994)
    4. A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. (PubMed id 21236492)1, 2 Mohney B.G.... Harris P.C. (Ophthalmology 2011)
    5. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1, 4 So H.C....Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    6. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. (PubMed id 20507940)1, 4 Machuca E....Antignac C. (J. Am. Soc. Nephrol. 2010)
    7. Eye involvement in children with primary focal segmental glomerulosclerosis. (PubMed id 18058136)1, 4 Ozaltin F....Bakkaloglu A. (Pediatr. Nephrol. 2008)
    8. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). (PubMed id 17371932)1, 4 Hinkes B.G....Hildebrandt F. (Pediatrics 2007)
    9. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. (PubMed id 15367484)1, 2 Zenker M.... Reis A. (Hum. Mol. Genet. 2004)
    10. Characterization of the human laminin beta2 chain locus (LAMB2): linkage to a gene containing a nonprocessed, transcribed LAMB2-like pseudogene (LAMB2L) and to the gene encoding glutaminyl tRNA synthetase (QARS). (PubMed id 10393422)1, 3 Durkin M.E....Wewer U.M. (Cytogenet. Cell Genet. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3913 HGNC: 6487 AceView: LAMB2 Ensembl:ENSG00000172037 euGenes: HUgn3913
    ECgene: LAMB2 Kegg: 3913 H-InvDB: LAMB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LAMB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LAMB2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LAMB2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LAMB2 gene:
    Search GeneIP for patents involving LAMB2

    Licensable Technologies for LAMB2 gene:
     Tufts University:  Laminins and their functions in nervous systems
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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